Duchenne Muscular Dystrophy Erin Kim

Duchenne Muscular Dystrophy (DMD) is a type of muscular dystrophy is a recessive genetic disorder causing the fast deterioration of muscles. What is Duchenne Muscular Dystrophy?

Symptoms symptoms usually start to become visible to the naked eye from infancy to around five years old. When they do start to walk, they walk in a weird way, only walking on the balls of their feet This is because they have increased calf muscles. However this muscle is very soon replaced by fatty tissue.

DATA: DMD

DATA: IQ Another symptom of DMD is a slight mental retardation such as dyslexia, or learning disabilities.

Inheritance The Dystrophin gene is a gene located on the X chromosome (sex-linked disease) Females are rarely affected (X- inactivation) 30% of dystrophin mutations occur spontaneously

Tests electromyopathy test – insertion of needle, recording of electricity. (When muscles contract and release, there is usually an electric current flowing through the tissue) “Serum Creatine Kinase Test” looks for a build up of kinase in the bloodstream muscle biopsy- Here a piece of muscle is removed and examined. If the cells are big and filled with fatty tissue then that means that person has DMD electromyopathy test

DMD is caused by the lack of Dystrophin, (a protein) in the cell membrane of muscles People with DMD usually die by 20 years of age because their heart and diaphragm have deteriorated. Primary Cause/ Life Span

Cure? Support groups? Currently there is no cure for DMD, but many studies are being done to try and find cures. Many DMD patients go to physical therapy to keep their muscles in the best condition they can The Muscular Dystrophy Association (MDA) is a large support group that helps people with muscular disorders

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